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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term GCH1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000131979	GCH1	0	0	17	ENSG00000131979	ENST00000543643	ENSP00000444011	GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]	14	55308726	55369570	-1	q22.2	55308734	55369525	GCH1	GCH1-003	HGNC Symbol	HGNC transcript name	6	42.22	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	2643	4193	GCH1	NM_001024070	27520

MSeqDR Master Exome Data Set M1: 166 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	14	55308770	C	A	ENST00000254299	ENSG00000131979	55308726	55369570	-	GCH1	-1	-	c.2866G>T	p.V956L	non-syn	rs6572984	1	-	-	-	-	-	hom	184
2	14	55308770	C	A	ENST00000254299	ENSG00000131979	55308726	55369570	-	GCH1	-1	-	c.2866G>T	p.V956L	non-syn	rs6572984	1	-	-	-	-	-	het	2
3	14	55308770	C	A	ENST00000395514	ENSG00000131979	55308726	55369570	ENSP00000378890	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	hom	184
4	14	55308770	C	A	ENST00000395514	ENSG00000131979	55308726	55369570	ENSP00000378890	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	het	2
5	14	55308770	C	A	ENST00000491895	ENSG00000131979	55308726	55369570	ENSP00000419045	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	hom	184
6	14	55308770	C	A	ENST00000491895	ENSG00000131979	55308726	55369570	ENSP00000419045	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	het	2
7	14	55308770	C	A	ENST00000536224	ENSG00000131979	55308726	55369570	ENSP00000445246	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	hom	184
8	14	55308770	C	A	ENST00000536224	ENSG00000131979	55308726	55369570	ENSP00000445246	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	het	2
9	14	55308770	C	A	ENST00000543643	ENSG00000131979	55308726	55369570	ENSP00000444011	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	hom	184
10	14	55308770	C	A	ENST00000543643	ENSG00000131979	55308726	55369570	ENSP00000444011	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	rs6572984	1	-	-	-	-	-	het	2
11	14	55309009	G	-AAC	ENST00000254299	ENSG00000131979	55308726	55369570	-	GCH1	-1	-	c.2624_2626del	p.S876NA	non-syn	NA	-	-	-	-	-	-	het	1
12	14	55309009	G	-AAC	ENST00000395514	ENSG00000131979	55308726	55369570	ENSP00000378890	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	14	55309009	G	-AAC	ENST00000491895	ENSG00000131979	55308726	55369570	ENSP00000419045	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	14	55309009	G	-AAC	ENST00000536224	ENSG00000131979	55308726	55369570	ENSP00000445246	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	14	55309009	G	-AAC	ENST00000543643	ENSG00000131979	55308726	55369570	ENSP00000444011	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	14	55309048	A	G	ENST00000254299	ENSG00000131979	55308726	55369570	-	GCH1	-1	-	c.2588T>C	p.L863S	non-syn	NA	-	-	lod=13:243	-	-	-	hom	1
17	14	55309048	A	G	ENST00000395514	ENSG00000131979	55308726	55369570	ENSP00000378890	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	hom	1
18	14	55309048	A	G	ENST00000491895	ENSG00000131979	55308726	55369570	ENSP00000419045	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	hom	1
19	14	55309048	A	G	ENST00000536224	ENSG00000131979	55308726	55369570	ENSP00000445246	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	hom	1
20	14	55309048	A	G	ENST00000543643	ENSG00000131979	55308726	55369570	ENSP00000444011	GCH1	-1	GCH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	hom	1

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Transcripts and variants in the surrounding GCH1 14:55308726..55369570 region Gbrowse